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目的:总结21例新生儿糖尿病(neonatal diabetes mellitus,NDM)患儿的临床及随访资料,加强对NDM的认识,为临床诊疗及随访预后提供参考。方法:对2011年1月～2018年8月间于南京市儿童医院内分泌科诊治的21例NDM患儿的临床特征、生长发育等情况进行回顾性分析。结果:患儿诊断的中位年龄97 d,随访0.96～147.6个月;新诊断时7例合并糖尿病酮症酸中毒,3例合并糖尿病酮症。3例因随访时间过短未分型,2例暂时性NDM(transient neonatal diabetes mellitus,TNDM),16例永久性NDM(permanent neonatal diabetes mellitus,PNDM)。13例行格列本脲经验性治疗,成功率为53.8%;12例存在生长发育障碍或语言、运动落后。11例完善基因检测,基因突变阳性率为81.8%。治疗方案、并发症、基因型等因素在不同的生长发育情况中,差异无统计学意义(P>0.05)。不同治疗方案对生长发育情况进行Fisher精确概率分析发现,差异无统计学意义(P>0.05)。结论:KCNJ11、ABCC8基因突变的NDM患儿更易出现发育障碍,多数患儿磺脲类药物治疗有效,可改善其发育障碍结局。年龄、并发症及基因型等与生长发育结局之间无相关性。条件允许时应尽早完善基因检测,明确突变类型,以指导治疗、判断预后。
Abstract：Objective: To summarize the clinical and follow-up data of 21 children with neonatal diabetes mellitus(NDM) to strengthen the understanding of NDM and provide reference for clinical diagnosis and follow-up. Methods: The clinical characteristics, growth and development of 21 children with NDM who were diagnosed and treated in the Children's Hospital of Nanjing Medical University from January 2011 to August 2018 were retrospectively analyzed. Results:The median age of diagnosis was 97 d and the follow-up period was 0.96 to 47.6 months. At the time of new diagnosis, 7 cases were complicated with diabetic ketoacidosis and 3 cases with diabetic ketoacidosis. Totally 7 patients had diabetic ketoacidosis(DKA) and 3 patients had diabetic ketosis(DK) while 3 cases were unclassified because of short follow-up time. Two patients are Transient neonatal diabetes mellitus(TNDM). Sixteen cases are Permanent neonatal diabetes mellitus(PNDM). Thirteen patients underwent drug-experiential treatment with a success rate of 53.8%. Twelve patients had growth and development disorders or language and motor retardation. Eleven cases were improved by genetic testing and the positive rate of gene mutation was 81.8%. There was no significant difference in treatment regimen, complications, genotype and other factors among different growth and development conditions(P > 0.05). Fisher exact probability analysis of growth and development in different treatment schemes showed that there was no significant difference(P>0.05). Conclusions:Patients with KCNJ11 and ABCC8 gene mutations often have developmental disorders and sulfonylurea drugs are effective, which can improve the outcome of developmental disorders. There was no correlation between age, complications, genotype and the outcome of growth. When conditions permit, we should perfect gene detection as soon as possible to identify the type of mutation, guiding treatment and judging prognosis.
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基本信息:
DOI：10.13210/j.cnki.jhmu.20200306.004
中图分类号:R722.1
引用信息:
[1]赵雪,顾威.21例新生儿糖尿病临床特点及随访分析[J].海南医学院学报,2020,26(11):856-860.DOI:10.13210/j.cnki.jhmu.20200306.004.
基金信息:
南京市医学科技发展重点项目(201823014)~~
2020-03-06
2020-03-06
2020-03-06